NM_006231.4(POLE):c.6330+18C>T AND not specified

Germline classification:: Benign (5 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000433294.24

Allele description [Variation Report for NM_006231.4(POLE):c.6330+18C>T]

NM_006231.4(POLE):c.6330+18C>T

Gene:

POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

NM_006231.4(POLE):c.6330+18C>T

HGVS:

NC_000012.12:g.132632297G>A
NG_033840.1:g.60228C>T
NM_006231.4:c.6330+18C>TMANE SELECT
LRG_789t1:c.6330+18C>T
LRG_789:g.60228C>T
NC_000012.11:g.133208883G>A
NM_006231.2:c.6330+18C>T
NM_006231.3:c.6330+18C>T

Links:

dbSNP: rs5745024

NCBI 1000 Genomes Browser:

rs5745024

Molecular consequence:

NM_006231.4:c.6330+18C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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zinc finger CCCH domain-containing protein 13 isoform 1 [Homo sapiens]
zinc finger CCCH domain-containing protein 13 isoform 1 [Homo sapiens]
gi|1060099240|ref|NP_001317493.1|

Protein
Syntrichia obtusissima voucher MO:A. Paola Pena Retes 387 tRNA-Phe (trnF-GAA) ge...
Syntrichia obtusissima voucher MO:A. Paola Pena Retes 387 tRNA-Phe (trnF-GAA) gene and trnF(GAA)-trnL(UAA) intergenic spacer, complete sequence; and tRNA-Leu (trnL-UAA) gene, partial sequence
gi|2546778403|gb|MZ855667.1|

Nucleotide
Aloina brevirostris isolate 1196 ATP synthase beta (atpB) gene, partial cds; and...
Aloina brevirostris isolate 1196 ATP synthase beta (atpB) gene, partial cds; and atpB-rbcL intergenic spacer, partial sequence; chloroplast
gi|2675109256|gb|PP036133.1|

Nucleotide
UNVERIFIED: Syntrichia obtusissima voucher MO:John C. Brinda 13258 rbcL gene, pa...
UNVERIFIED: Syntrichia obtusissima voucher MO:John C. Brinda 13258 rbcL gene, partial sequence; chloroplast
gi|2557703092|gb|OK317628.1|

Nucleotide
Ses3 AND (alive[prop]) (3)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000518912	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 22, 2016)	germline	clinical testing	Citation Link,
SCV000806831	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 9, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001808981	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001923854	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002550039	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000518912.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000806831.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808981.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923854.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002550039.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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